Dosage Sensitivity Curation

The ClinGen Dosage Sensitivity curation process collects evidence supporting/refuting the haploinsufficiency and triplosensitivity of genes and genomic regions.

The Process

Read the publication describing the ClinGen dosage sensitivity evaluation process (freely available through PubMed Commons)

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Educational and Training Materials

Powerpoint slides, videos, handouts, etc. for those interested in curating dosage sensitivity using the ClinGen method.

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Dosage Sensitivity Curation Interface

Currently available for ClinGen Biocurators.  Log-in required.

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Dosage Sensitivity Results

Search by genes or genomic coordinates, or download the entire dosage sensitivity dataset.

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